MCID: CRD019
MIFTS: 12

Cardiocranial Syndrome

Categories: Cardiovascular diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiocranial Syndrome

MalaCards integrated aliases for Cardiocranial Syndrome:

Name: Cardiocranial Syndrome 53 73
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 53
Sagittal Craniostenosis with Congenital Heart Disease, Mental Deficiency and Mandibular Ankylosis 53
Craniosynostosis-Congenital Heart Disease-Intellectual Disability Syndrome 53
Cardiocranial Syndrome, Pfeiffer Type 53
Pfeiffer-Type Cardiocranial Syndrome 53
Pfeiffer Singer Zschiesche Syndrome 53
Pfeiffer-Singer-Zschiesche Syndrome 53
Pfeiffer Cardiocranial Syndrome 53

Classifications:



External Ids:

UMLS 73 C1857495

Summaries for Cardiocranial Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2872Disease definitionPfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).Clinical descriptionGenital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. Joint and palpebral abnormalities may also occur.EtiologyThe etiology remains unknown. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.Management and treatmentManagement depends on the cardinal manifestations and includes surgery for cranial decompression. Supportive measures should be offered.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cardiocranial Syndrome, also known as craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis, is related to craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis. Affiliated tissues include heart.

Related Diseases for Cardiocranial Syndrome

Diseases related to Cardiocranial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.7

Symptoms & Phenotypes for Cardiocranial Syndrome

Drugs & Therapeutics for Cardiocranial Syndrome

Search Clinical Trials , NIH Clinical Center for Cardiocranial Syndrome

Genetic Tests for Cardiocranial Syndrome

Anatomical Context for Cardiocranial Syndrome

MalaCards organs/tissues related to Cardiocranial Syndrome:

41
Heart

Publications for Cardiocranial Syndrome

Articles related to Cardiocranial Syndrome:

# Title Authors Year
1
Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q. ( 16531733 )
2006
2
Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome--variable manifestations of a single disorder? ( 15578579 )
2005
3
Intrafamilial variability of Pfeiffer-type cardiocranial syndrome. ( 9415478 )
1997
4
Pfeiffer type cardiocranial syndrome: a third case report. ( 8592338 )
1995
5
Third case of Pfeiffer-type cardiocranial syndrome. ( 2624274 )
1989

Variations for Cardiocranial Syndrome

Expression for Cardiocranial Syndrome

Search GEO for disease gene expression data for Cardiocranial Syndrome.

Pathways for Cardiocranial Syndrome

GO Terms for Cardiocranial Syndrome

Sources for Cardiocranial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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